Incidental Mutation 'R7339:Atp1a1'
| ID |
569687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
045429-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7339 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101497188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 373
(I373V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: I373V
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: I373V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
28 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
42 |
116 |
5e-20 |
SMART |
|
Pfam:E1-E2_ATPase
|
134 |
365 |
1.6e-59 |
PFAM |
|
Pfam:Hydrolase
|
370 |
729 |
2.7e-19 |
PFAM |
|
Pfam:HAD
|
373 |
726 |
1.3e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
426 |
521 |
2.2e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
799 |
1008 |
1.2e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,330,938 (GRCm39) |
D1092G |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,529 (GRCm39) |
N2271I |
possibly damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,306 (GRCm39) |
S90G |
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,564,481 (GRCm39) |
E484G |
possibly damaging |
Het |
| Arid3c |
A |
G |
4: 41,729,883 (GRCm39) |
|
probably null |
Het |
| Barhl1 |
T |
C |
2: 28,799,899 (GRCm39) |
E242G |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,163,210 (GRCm39) |
|
probably null |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,036,202 (GRCm39) |
V1488E |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,815 (GRCm39) |
Q401H |
probably damaging |
Het |
| Cfap36 |
T |
C |
11: 29,175,925 (GRCm39) |
Y191C |
probably benign |
Het |
| Chmp2b |
G |
A |
16: 65,342,232 (GRCm39) |
Q119* |
probably null |
Het |
| Cps1 |
T |
A |
1: 67,236,174 (GRCm39) |
I969N |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,500,366 (GRCm39) |
F920L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,594,277 (GRCm39) |
T3410S |
probably benign |
Het |
| Fbxo42 |
T |
G |
4: 140,927,455 (GRCm39) |
S578R |
possibly damaging |
Het |
| Fcgr1 |
C |
T |
3: 96,191,615 (GRCm39) |
G398R |
not run |
Het |
| Foxa3 |
A |
T |
7: 18,748,794 (GRCm39) |
Y111N |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,846,340 (GRCm39) |
K190E |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,367,964 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,529,390 (GRCm39) |
I80T |
probably damaging |
Het |
| Kri1 |
T |
G |
9: 21,197,883 (GRCm39) |
Q89P |
|
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Metap1 |
T |
C |
3: 138,171,898 (GRCm39) |
|
probably null |
Het |
| Mkrn3 |
C |
T |
7: 62,069,530 (GRCm39) |
R87H |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,199,025 (GRCm39) |
|
probably null |
Het |
| Naip6 |
G |
T |
13: 100,452,527 (GRCm39) |
P178Q |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,378,454 (GRCm39) |
E160G |
probably damaging |
Het |
| Nek6 |
G |
A |
2: 38,450,977 (GRCm39) |
A127T |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,929,297 (GRCm39) |
V264A |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,330,627 (GRCm39) |
I590F |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,080 (GRCm39) |
A163T |
probably benign |
Het |
| Or2y17 |
G |
A |
11: 49,231,875 (GRCm39) |
R172Q |
not run |
Het |
| Or4f57 |
A |
T |
2: 111,790,956 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,820 (GRCm39) |
L237P |
probably damaging |
Het |
| Or52n4b |
A |
C |
7: 108,144,107 (GRCm39) |
D125A |
probably damaging |
Het |
| Otop3 |
T |
A |
11: 115,237,204 (GRCm39) |
L556Q |
probably damaging |
Het |
| Padi1 |
T |
C |
4: 140,556,545 (GRCm39) |
D190G |
probably null |
Het |
| Pald1 |
T |
C |
10: 61,159,110 (GRCm39) |
S774G |
possibly damaging |
Het |
| Pde10a |
C |
T |
17: 8,975,860 (GRCm39) |
T55I |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,109,459 (GRCm39) |
M197V |
probably benign |
Het |
| Prom1 |
C |
A |
5: 44,258,995 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,111,426 (GRCm39) |
H164R |
possibly damaging |
Het |
| Rrh |
A |
T |
3: 129,604,262 (GRCm39) |
I313N |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,591 (GRCm39) |
I88T |
probably damaging |
Het |
| Slc38a11 |
C |
T |
2: 65,156,914 (GRCm39) |
V353I |
probably benign |
Het |
| Spata31e3 |
A |
T |
13: 50,401,204 (GRCm39) |
I374N |
possibly damaging |
Het |
| Spdef |
T |
A |
17: 27,939,219 (GRCm39) |
E42D |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,505,624 (GRCm39) |
D129G |
probably benign |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,435 (GRCm39) |
Y68F |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,015 (GRCm39) |
S238P |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,950 (GRCm39) |
D592G |
probably benign |
Het |
| Ttll5 |
T |
C |
12: 85,904,238 (GRCm39) |
|
probably null |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,258,306 (GRCm39) |
Y302* |
probably null |
Het |
| Vps13d |
C |
T |
4: 144,847,938 (GRCm39) |
V2478I |
|
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Wsb1 |
A |
G |
11: 79,131,184 (GRCm39) |
V404A |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,239,205 (GRCm39) |
D539G |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,722,173 (GRCm39) |
V1392A |
probably damaging |
Het |
|
| Other mutations in Atp1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Atp1a1
|
APN |
3 |
101,498,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01700:Atp1a1
|
APN |
3 |
101,501,574 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01836:Atp1a1
|
APN |
3 |
101,498,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01863:Atp1a1
|
APN |
3 |
101,499,205 (GRCm39) |
nonsense |
probably null |
|
|
IGL02021:Atp1a1
|
APN |
3 |
101,501,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02078:Atp1a1
|
APN |
3 |
101,499,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02873:Atp1a1
|
APN |
3 |
101,483,894 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02934:Atp1a1
|
APN |
3 |
101,484,308 (GRCm39) |
nonsense |
probably null |
|
|
IGL03068:Atp1a1
|
APN |
3 |
101,491,175 (GRCm39) |
missense |
probably benign |
0.26 |
|
PIT4453001:Atp1a1
|
UTSW |
3 |
101,488,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0009:Atp1a1
|
UTSW |
3 |
101,487,151 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0506:Atp1a1
|
UTSW |
3 |
101,497,128 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0724:Atp1a1
|
UTSW |
3 |
101,499,755 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0826:Atp1a1
|
UTSW |
3 |
101,492,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1457:Atp1a1
|
UTSW |
3 |
101,497,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Atp1a1
|
UTSW |
3 |
101,492,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Atp1a1
|
UTSW |
3 |
101,489,333 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2172:Atp1a1
|
UTSW |
3 |
101,497,864 (GRCm39) |
missense |
probably benign |
|
|
R3770:Atp1a1
|
UTSW |
3 |
101,488,510 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3905:Atp1a1
|
UTSW |
3 |
101,497,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4602:Atp1a1
|
UTSW |
3 |
101,494,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4611:Atp1a1
|
UTSW |
3 |
101,494,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4715:Atp1a1
|
UTSW |
3 |
101,499,122 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4777:Atp1a1
|
UTSW |
3 |
101,502,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4795:Atp1a1
|
UTSW |
3 |
101,491,091 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5030:Atp1a1
|
UTSW |
3 |
101,487,133 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5066:Atp1a1
|
UTSW |
3 |
101,489,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5165:Atp1a1
|
UTSW |
3 |
101,489,105 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5297:Atp1a1
|
UTSW |
3 |
101,498,443 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5307:Atp1a1
|
UTSW |
3 |
101,497,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5379:Atp1a1
|
UTSW |
3 |
101,489,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5495:Atp1a1
|
UTSW |
3 |
101,498,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5946:Atp1a1
|
UTSW |
3 |
101,497,090 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6125:Atp1a1
|
UTSW |
3 |
101,498,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6789:Atp1a1
|
UTSW |
3 |
101,493,614 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7552:Atp1a1
|
UTSW |
3 |
101,489,437 (GRCm39) |
nonsense |
probably null |
|
|
R7825:Atp1a1
|
UTSW |
3 |
101,493,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8098:Atp1a1
|
UTSW |
3 |
101,489,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8175:Atp1a1
|
UTSW |
3 |
101,492,170 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8281:Atp1a1
|
UTSW |
3 |
101,486,940 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8403:Atp1a1
|
UTSW |
3 |
101,494,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8435:Atp1a1
|
UTSW |
3 |
101,490,078 (GRCm39) |
missense |
probably benign |
|
|
R8461:Atp1a1
|
UTSW |
3 |
101,496,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8772:Atp1a1
|
UTSW |
3 |
101,487,124 (GRCm39) |
missense |
probably benign |
|
|
R8782:Atp1a1
|
UTSW |
3 |
101,501,533 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8919:Atp1a1
|
UTSW |
3 |
101,498,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Atp1a1
|
UTSW |
3 |
101,489,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Atp1a1
|
UTSW |
3 |
101,499,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9712:Atp1a1
|
UTSW |
3 |
101,498,757 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0019:Atp1a1
|
UTSW |
3 |
101,501,529 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAAAACAGTGTCATGGGC -3'
(R):5'- GGCTGGAGAGATTGAATTCTAAAC -3'
Sequencing Primer
(F):5'- CAGCATGATGATCTGGGACCTAC -3'
(R):5'- GTCTGTCTGACACTCACT -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation